Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3321984017 | Corneal dystrophy and perceptive deafness syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3321985016 | Corneal dystrophy with progressive deafness | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3321986015 | Harboyan syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3322600012 | Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3322601011 | Congenital hereditary endothelial dystrophy and perceptive deafness syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3320415012 | A degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive postlingual sensorineural hearing loss. The ocular manifestations include diffuse bilateral corneal edema occurring with severe corneal clouding, blurred vision, visual loss and nystagmus. Caused by mutations in the SLC4A11 gene located at the CHED2 locus on chromosome 20p13p12. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3321968018 | A degenerative corneal disorder characterised by the association of congenital hereditary endothelial dystrophy with progressive postlingual sensorineural hearing loss. The ocular manifestations include diffuse bilateral corneal oedema occurring with severe corneal clouding, blurred vision, visual loss and nystagmus. Caused by mutations in the SLC4A11 gene located at the CHED2 locus on chromosome 20p13p12. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | Is a | Sensorineural hearing loss | true | Inferred relationship | Some | ||
| Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | Is a | Hereditary corneal dystrophy | false | Inferred relationship | Some | ||
| Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | Is a | Congenital hearing disorder | false | Inferred relationship | Some | ||
| Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
| Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | Is a | Corneal endothelial dystrophy (disorder) | false | Inferred relationship | Some | ||
| Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | Finding site | Ear structure | false | Inferred relationship | Some | 2 | |
| Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | Interprets | Hearing | true | Inferred relationship | Some | 3 | |
| Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | Interprets | Functional observable | false | Inferred relationship | Some | ||
| Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | Associated morphology | Dystrophy | true | Inferred relationship | Some | 4 | |
| Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | Finding site | Structure of corneal endothelium | true | Inferred relationship | Some | 4 | |
| Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 2 | |
| Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | Is a | Congenital dystrophy of cornea (disorder) | true | Inferred relationship | Some | ||
| Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | Is a | Congenital hereditary endothelial dystrophy (disorder) | true | Inferred relationship | Some | ||
| Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
| Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | Finding site | Chromosome pair 20 | true | Inferred relationship | Some | 1 | |
| Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | Associated morphology | Cellular AND/OR subcellular abnormality | true | Inferred relationship | Some | 1 | |
| Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR